| Primary Identifier | MGI:1925542 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 109305 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables store-operated calcium channel activity. Involved in G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within calcium ion import; mammary gland epithelium development; and store-operated calcium entry. Located in basolateral plasma membrane. Is active in plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and skin. Human ortholog(s) of this gene implicated in immunodeficiency 9 and tubular aggregate myopathy 2. Orthologous to human ORAI1 (ORAI calcium release-activated calcium modulator 1). PHENOTYPE: Mice homozygous for a null allele exhibit small body size and defects in mast cell degranulation, cytokine secretion, and passive cutaneous anaphylaxis. Male mice are infertile due to a defect in spermatid maturation and show progressive degeneration and atrophy of the seminiferous tubules. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
